Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation

We report on a novel pathogenic mutation in the SOS1 gene and a large clinical spectrum in a NS family with ten genetically confirmed affected individuals.

Source: American Journal of Medical Genetics Part A - September 8, 2017 Category: Genetics & Stem Cells Authors: Doroth ée C. van Trier, Tuula Rinne, Kees Noordam, Jos M. Draaisma, Ineke van der Burgt Tags: ORIGINAL ARTICLE Source Type: research